Mutagenetix > Incidental Mutation

Incidental Mutation 'R0153:Garin5b'

22835

Institutional Source

Beutler Lab

Gene Symbol

Garin5b

Ensembl Gene

ENSMUSG00000092518

Gene Name

golgi associated RAB2 interactor family member 5B

Synonyms

Fam71e2, 4930401F20Rik

MMRRC Submission

038436-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.108) question?

Stock #

R0153 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

4756225-4774301 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 4773286 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 177 (L177Q)

Ref Sequence

ENSEMBL: ENSMUSP00000133885 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094892] [ENSMUST00000163481] [ENSMUST00000163574] [ENSMUST00000174409]

AlphaFold

L7N480

Predicted Effect

probably benign
Transcript: ENSMUST00000094892

SMART Domains

Protein: ENSMUSP00000092492
Gene: ENSMUSG00000004371

Domain	Start	End	E-Value	Type
Pfam:IL11	1	199	1.3e-119	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000108580
AA Change: L177Q

PolyPhen 2 Score 0.869 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000134691
Gene: ENSMUSG00000092518
AA Change: L177Q

Domain	Start	End	E-Value	Type
low complexity region	12	22	N/A	INTRINSIC
Pfam:DUF3699	99	172	6.5e-23	PFAM
low complexity region	282	296	N/A	INTRINSIC
low complexity region	684	697	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000163481

SMART Domains

Protein: ENSMUSP00000131168
Gene: ENSMUSG00000004371

Domain	Start	End	E-Value	Type
Pfam:IL11	1	140	2.1e-90	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000163574

SMART Domains

Protein: ENSMUSP00000137684
Gene: ENSMUSG00000092518

Domain	Start	End	E-Value	Type
low complexity region	7	17	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000174409
AA Change: L177Q

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000133885
Gene: ENSMUSG00000092518
AA Change: L177Q

Domain	Start	End	E-Value	Type
low complexity region	7	17	N/A	INTRINSIC
Pfam:DUF3699	93	168	5.8e-24	PFAM
low complexity region	277	291	N/A	INTRINSIC
low complexity region	679	692	N/A	INTRINSIC

Meta Mutation Damage Score

0.2767

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.5%
20x: 90.1%

Validation Efficiency

97% (99/102)

Allele List at MGI

Other mutations in this stock

Total: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb9	T	C	5: 124,218,119 (GRCm39)	M406V	probably benign	Het
Adar	T	C	3: 89,638,121 (GRCm39)	S2P	probably benign	Het
Adgre1	T	A	17: 57,750,939 (GRCm39)	S538T	possibly damaging	Het
Alms1	T	A	6: 85,618,363 (GRCm39)	I2803N	possibly damaging	Het
Amn1	G	T	6: 149,090,091 (GRCm39)		probably benign	Het
Arid1b	G	A	17: 5,393,207 (GRCm39)	A2246T	probably damaging	Het
BC024139	T	C	15: 76,005,947 (GRCm39)	E418G	probably damaging	Het
Bok	A	G	1: 93,614,239 (GRCm39)	D24G	probably damaging	Het
Cabp2	T	C	19: 4,134,913 (GRCm39)		probably benign	Het
Ccdc141	C	A	2: 76,995,582 (GRCm39)		probably benign	Het
Ccdc178	T	C	18: 22,283,492 (GRCm39)	T13A	probably benign	Het
Ccdc42	G	T	11: 68,478,476 (GRCm39)	V33F	possibly damaging	Het
Clcn7	G	A	17: 25,368,176 (GRCm39)		probably benign	Het
Cluh	A	G	11: 74,548,176 (GRCm39)		probably benign	Het
Cr1l	A	T	1: 194,797,164 (GRCm39)		probably benign	Het
Cracdl	A	G	1: 37,663,720 (GRCm39)	V726A	probably benign	Het
Csnk1g3	T	A	18: 54,051,861 (GRCm39)		probably benign	Het
Depdc5	T	C	5: 33,091,281 (GRCm39)		probably benign	Het
Dgkh	A	C	14: 78,807,569 (GRCm39)	Y1149*	probably null	Het
Dipk2a	G	T	9: 94,406,533 (GRCm39)	D291E	probably benign	Het
Dnai1	A	G	4: 41,635,162 (GRCm39)		probably benign	Het
Dync2i1	A	G	12: 116,196,256 (GRCm39)	V497A	probably benign	Het
Efcab2	A	G	1: 178,302,451 (GRCm39)	E65G	possibly damaging	Het
Eif4a3l1	A	T	6: 136,305,842 (GRCm39)	D101V	probably damaging	Het
Eno1b	T	C	18: 48,180,806 (GRCm39)	I328T	probably benign	Het
Fgfr4	A	G	13: 55,309,198 (GRCm39)		probably benign	Het
Gm10720	A	C	9: 3,015,787 (GRCm39)	S44R	probably null	Het
Gm17535	T	A	9: 3,035,786 (GRCm39)	L218H	probably benign	Het
Gm6471	A	T	7: 142,385,368 (GRCm39)		noncoding transcript	Het
Hnrnpm	C	T	17: 33,865,489 (GRCm39)	R724Q	probably damaging	Het
Homer1	C	T	13: 93,528,254 (GRCm39)	T117I	possibly damaging	Het
Hoxd4	A	T	2: 74,557,801 (GRCm39)	Q60L	probably damaging	Het
Ift172	T	C	5: 31,417,968 (GRCm39)	R1274G	probably benign	Het
Ino80d	A	G	1: 63,097,477 (GRCm39)	S806P	probably damaging	Het
Itga10	T	C	3: 96,561,016 (GRCm39)	V627A	probably benign	Het
Itgb2l	A	G	16: 96,238,569 (GRCm39)	Y77H	possibly damaging	Het
Kel	A	T	6: 41,678,877 (GRCm39)	H195Q	probably benign	Het
Klhdc7a	A	G	4: 139,694,582 (GRCm39)	S122P	possibly damaging	Het
Krt71	T	A	15: 101,643,141 (GRCm39)	I456F	possibly damaging	Het
Lats1	T	A	10: 7,567,339 (GRCm39)	S37T	probably damaging	Het
Lrp1b	T	A	2: 41,013,031 (GRCm39)	H1858L	possibly damaging	Het
Matk	A	T	10: 81,098,676 (GRCm39)	T461S	probably benign	Het
Meikin	A	G	11: 54,300,468 (GRCm39)		probably benign	Het
Muc6	T	C	7: 141,214,029 (GRCm39)	Q2832R	possibly damaging	Het
Myo10	T	C	15: 25,781,324 (GRCm39)	F194L	possibly damaging	Het
Nbas	G	A	12: 13,323,877 (GRCm39)		probably benign	Het
Nme4	A	G	17: 26,312,831 (GRCm39)		probably null	Het
Or13p8	A	T	4: 118,583,530 (GRCm39)	I29F	possibly damaging	Het
Or4c112	T	A	2: 88,853,540 (GRCm39)	N269I	probably benign	Het
Or5w13	A	G	2: 87,523,948 (GRCm39)	S93P	probably benign	Het
Or7g32	T	A	9: 19,408,233 (GRCm39)	L63H	probably damaging	Het
Or8g34	T	C	9: 39,372,967 (GRCm39)	V80A	probably damaging	Het
Pacsin2	T	C	15: 83,261,862 (GRCm39)	Q473R	probably benign	Het
Patz1	A	G	11: 3,243,288 (GRCm39)	H427R	probably damaging	Het
Pkp3	A	G	7: 140,663,256 (GRCm39)	Y367C	probably damaging	Het
Prdm2	G	A	4: 142,860,338 (GRCm39)	P984L	possibly damaging	Het
Rev3l	T	A	10: 39,750,124 (GRCm39)	C3091*	probably null	Het
Rims4	C	T	2: 163,705,849 (GRCm39)	V262M	possibly damaging	Het
Rpl5	T	C	5: 108,052,623 (GRCm39)	F140L	probably benign	Het
Sec24a	A	C	11: 51,591,653 (GRCm39)	I1014M	probably benign	Het
Serpinb11	A	G	1: 107,299,933 (GRCm39)	H93R	probably benign	Het
Shank2	C	A	7: 143,623,872 (GRCm39)	H286N	probably benign	Het
Sipa1l2	G	T	8: 126,148,637 (GRCm39)	Q1651K	probably damaging	Het
Slc17a3	C	T	13: 24,039,841 (GRCm39)	S293F	probably damaging	Het
Slc30a5	A	T	13: 100,963,002 (GRCm39)	F75L	possibly damaging	Het
Slco1a1	G	T	6: 141,856,427 (GRCm39)		probably benign	Het
Smg5	C	T	3: 88,261,179 (GRCm39)		probably benign	Het
Snapc1	C	T	12: 74,021,806 (GRCm39)	R81C	probably damaging	Het
Taf8	A	T	17: 47,809,177 (GRCm39)		probably benign	Het
Tars3	A	G	7: 65,333,829 (GRCm39)	D617G	probably damaging	Het
Tbc1d5	A	T	17: 51,291,715 (GRCm39)		probably benign	Het
Tfcp2	C	G	15: 100,412,708 (GRCm39)	E315Q	probably damaging	Het
Tmf1	A	T	6: 97,147,345 (GRCm39)	S540R	probably damaging	Het
Tmprss4	T	C	9: 45,095,634 (GRCm39)	Q70R	probably benign	Het
Trip13	G	T	13: 74,068,183 (GRCm39)	A266E	possibly damaging	Het
Ttc24	T	A	3: 87,982,234 (GRCm39)		probably benign	Het
Ttll5	T	A	12: 85,878,740 (GRCm39)	I49N	probably damaging	Het
Tut7	G	A	13: 59,930,150 (GRCm39)	R962*	probably null	Het
Ube2ql1	A	T	13: 69,886,711 (GRCm39)	M250K	possibly damaging	Het
Vmn1r87	A	T	7: 12,866,211 (GRCm39)	D25E	probably damaging	Het
Vmn2r84	A	G	10: 130,227,877 (GRCm39)	Y120H	probably benign	Het
Wdr6	G	A	9: 108,452,441 (GRCm39)	R481C	probably damaging	Het
Zdhhc17	A	T	10: 110,790,955 (GRCm39)	Y371*	probably null	Het
Zfp292	T	C	4: 34,811,185 (GRCm39)	N620D	probably benign	Het
Zfp932	T	A	5: 110,154,834 (GRCm39)	Y11N	probably benign	Het

Other mutations in Garin5b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00984:Garin5b	APN	7	4,760,526 (GRCm39)	missense	probably damaging	0.99
IGL01622:Garin5b	APN	7	4,761,722 (GRCm39)	missense	probably benign	0.16
IGL01623:Garin5b	APN	7	4,761,722 (GRCm39)	missense	probably benign	0.16
IGL01944:Garin5b	APN	7	4,773,694 (GRCm39)	missense	possibly damaging	0.94
IGL03013:Garin5b	APN	7	4,761,632 (GRCm39)	missense	probably benign	0.14
IGL03029:Garin5b	APN	7	4,760,839 (GRCm39)	missense	possibly damaging	0.78
R0523:Garin5b	UTSW	7	4,762,392 (GRCm39)	missense	possibly damaging	0.74
R0981:Garin5b	UTSW	7	4,760,588 (GRCm39)	splice site	probably null
R1428:Garin5b	UTSW	7	4,760,687 (GRCm39)	missense	possibly damaging	0.68
R1736:Garin5b	UTSW	7	4,761,153 (GRCm39)	missense	probably damaging	1.00
R1929:Garin5b	UTSW	7	4,761,186 (GRCm39)	missense	probably benign	0.00
R1993:Garin5b	UTSW	7	4,761,017 (GRCm39)	missense	probably damaging	1.00
R2016:Garin5b	UTSW	7	4,762,397 (GRCm39)	missense	probably damaging	1.00
R2256:Garin5b	UTSW	7	4,774,020 (GRCm39)	missense	probably benign	0.01
R2270:Garin5b	UTSW	7	4,761,186 (GRCm39)	missense	probably benign	0.00
R2271:Garin5b	UTSW	7	4,761,186 (GRCm39)	missense	probably benign	0.00
R2272:Garin5b	UTSW	7	4,761,186 (GRCm39)	missense	probably benign	0.00
R4288:Garin5b	UTSW	7	4,773,722 (GRCm39)	missense	possibly damaging	0.91
R4653:Garin5b	UTSW	7	4,761,054 (GRCm39)	missense	possibly damaging	0.95
R4812:Garin5b	UTSW	7	4,762,071 (GRCm39)	missense	probably damaging	1.00
R4860:Garin5b	UTSW	7	4,760,468 (GRCm39)	critical splice donor site	probably null
R4860:Garin5b	UTSW	7	4,760,468 (GRCm39)	critical splice donor site	probably null
R5037:Garin5b	UTSW	7	4,761,575 (GRCm39)	missense	possibly damaging	0.64
R5044:Garin5b	UTSW	7	4,761,660 (GRCm39)	missense	probably benign	0.00
R5491:Garin5b	UTSW	7	4,760,925 (GRCm39)	missense	probably benign	0.05
R5559:Garin5b	UTSW	7	4,761,449 (GRCm39)	missense	probably damaging	1.00
R5919:Garin5b	UTSW	7	4,773,385 (GRCm39)	missense	possibly damaging	0.92
R6025:Garin5b	UTSW	7	4,761,143 (GRCm39)	missense	probably benign	0.01
R6038:Garin5b	UTSW	7	4,756,594 (GRCm39)	splice site	probably null
R6038:Garin5b	UTSW	7	4,756,594 (GRCm39)	splice site	probably null
R6164:Garin5b	UTSW	7	4,773,677 (GRCm39)	missense	probably damaging	0.99
R6371:Garin5b	UTSW	7	4,762,358 (GRCm39)	missense	probably benign	0.06
R6470:Garin5b	UTSW	7	4,760,850 (GRCm39)	missense	probably benign	0.16
R6546:Garin5b	UTSW	7	4,761,464 (GRCm39)	missense	probably benign	0.06
R6603:Garin5b	UTSW	7	4,761,431 (GRCm39)	missense	possibly damaging	0.95
R7037:Garin5b	UTSW	7	4,761,584 (GRCm39)	utr 3 prime	probably benign
R7381:Garin5b	UTSW	7	4,760,681 (GRCm39)	missense
R8743:Garin5b	UTSW	7	4,760,814 (GRCm39)	missense
R9066:Garin5b	UTSW	7	4,773,518 (GRCm39)	intron	probably benign
R9072:Garin5b	UTSW	7	4,762,253 (GRCm39)	missense
R9138:Garin5b	UTSW	7	4,773,406 (GRCm39)	missense
R9352:Garin5b	UTSW	7	4,761,605 (GRCm39)	missense
R9373:Garin5b	UTSW	7	4,760,712 (GRCm39)	missense
R9462:Garin5b	UTSW	7	4,761,330 (GRCm39)	missense
Z1177:Garin5b	UTSW	7	4,760,727 (GRCm39)	missense

Predicted Primers

PCR Primer
(F):5'- TTCCTTGGTCCCATGAGGTCAGAC -3'
(R):5'- AGGTATGTTCCTTGAGCCCCATCC -3'

Sequencing Primer
(F):5'- GGTCAGACTCTCCTTTTAAATACAGC -3'
(R):5'- GGATGATCCCACTAGACCTTG -3'

Posted On

2013-04-16